Linked Data
ClinVar Variation Id:
404949
dbSNP Id:
rs745992545
ExAC:
2:179445262 A / G
gnomAD v2:
2-179445262-A-G
gnomAD v3:
2-178580535-A-G
gnomAD v4:
2-178580535-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580535A>G , CM000664.2:g.178580535A>G | GRCh38 |
| NC_000002.11:g.179445262A>G , CM000664.1:g.179445262A>G | GRCh37 |
| NC_000002.10:g.179153508A>G | NCBI36 |
| NG_011618.3:g.255268T>C , LRG_391:g.255268T>C | |
| NG_051363.1:g.62709A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59140T>C (TTN) | ENSP00000343764.6:p.Tyr19714His | |
| ENST00000342175.11:c.40225T>C (TTN) | ENSP00000340554.6:p.Tyr13409His | |
| ENST00000359218.10:c.40024T>C (TTN) | ENSP00000352154.5:p.Tyr13342His | |
| ENST00000342175.10:c.40225T>C (TTN) | ENSP00000340554.6:p.Tyr13409His | |
| ENST00000342992.10:c.59140T>C (TTN) | ENSP00000343764.6:p.Tyr19714His | |
| ENST00000359218.9:c.40024T>C (TTN) | ENSP00000352154.5:p.Tyr13342His | |
| ENST00000460472.6:c.39649T>C (TTN) | ENSP00000434586.1:p.Tyr13217His | |
| ENST00000589042.5:c.66844T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr22282His | |
| ENST00000591111.5:c.61921T>C (TTN) | ENSP00000465570.1:p.Tyr20641His | |
| ENST00000615779.4:c.61921T>C (TTN) | ENSP00000483597.1:p.Tyr20641His | |
| NM_001256850.1:c.61921T>C (TTN) | NP_001243779.1:p.Tyr20641His | |
| NM_001267550.2:c.66844T>C (TTN) MANE Select | NP_001254479.2:p.Tyr22282His | |
| NM_003319.4:c.39649T>C (TTN) | NP_003310.4:p.Tyr13217His | |
| NM_133378.4:c.59140T>C (TTN) | NP_596869.4:p.Tyr19714His | |
| NM_133432.3:c.40024T>C (TTN) | NP_597676.3:p.Tyr13342His | |
| NM_133437.4:c.40225T>C (TTN) | NP_597681.4:p.Tyr13409His | |
| NR_038271.1:n.596+9086A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-2037A>G (TTN-AS1) | ||
| XM_011511729.1:c.65941T>C (TTN) | XP_011510031.1:p.Tyr21981His | |
| XM_011511730.1:c.39835T>C (TTN) | XP_011510032.1:p.Tyr13279His | |
| XM_011511731.1:c.39694T>C (TTN) | XP_011510033.1:p.Tyr13232His | |
| XM_017004819.1:c.65737T>C (TTN) | XP_016860308.1:p.Tyr21913His | |
| XM_017004820.1:c.61135T>C (TTN) | XP_016860309.1:p.Tyr20379His | |
| XM_017004821.1:c.61132T>C (TTN) | XP_016860310.1:p.Tyr20378His | |
| XM_017004822.1:c.58174T>C (TTN) | XP_016860311.1:p.Tyr19392His | |
| XM_017004823.1:c.39790T>C (TTN) | XP_016860312.1:p.Tyr13264His | |
| XM_024453094.1:c.61285T>C (TTN) | XP_024308862.1:p.Tyr20429His | |
| XM_024453095.1:c.61282T>C (TTN) | XP_024308863.1:p.Tyr20428His | |
| XM_024453096.1:c.60715T>C (TTN) | XP_024308864.1:p.Tyr20239His | |
| XM_024453097.1:c.58057T>C (TTN) | XP_024308865.1:p.Tyr19353His | |
| XM_024453098.1:c.57976T>C (TTN) | XP_024308866.1:p.Tyr19326His | |
| XM_024453099.1:c.39739T>C (TTN) | XP_024308867.1:p.Tyr13247His | |
| XM_024453100.1:c.29593T>C (TTN) | XP_024308868.1:p.Tyr9865His |